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P56179

- DLX6_HUMAN

UniProt

P56179 - DLX6_HUMAN

Protein

Homeobox protein DLX-6

Gene

DLX6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
  1. Functioni

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi49 – 10860HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. sequence-specific DNA binding transcription factor activity Source: ProtInc
    2. transcription regulatory region sequence-specific DNA binding Source: InterPro

    GO - Biological processi

    1. anatomical structure formation involved in morphogenesis Source: Ensembl
    2. embryonic limb morphogenesis Source: Ensembl
    3. epithelial cell differentiation Source: Ensembl
    4. head development Source: Ensembl
    5. inner ear morphogenesis Source: Ensembl
    6. nervous system development Source: ProtInc
    7. palate development Source: Ensembl
    8. positive regulation of epithelial cell proliferation Source: Ensembl
    9. skeletal system development Source: ProtInc

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein DLX-6
    Gene namesi
    Name:DLX6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:2919. DLX6.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA27374.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 175175Homeobox protein DLX-6PRO_0000049034Add
    BLAST

    Proteomic databases

    PaxDbiP56179.
    PRIDEiP56179.

    PTM databases

    PhosphoSiteiP56179.

    Expressioni

    Developmental stagei

    First expressed in embryos at 8.5-9 days in facial and branchial arch mesenchyme, otic vesicles and frontonasal ectoderm around olfactory placodes, a day later expression is seen in the developing forebrain in primordia of the ganglionic eminence and ventral diencephalic regions. In day 12.5 embryos, expressed in the brain and bones, and also in all skeletal structures of midgestation embryos after the first cartilage formation, and expression progressively declines in both brain and skeleton in day 15 embryos.

    Gene expression databases

    ArrayExpressiP56179.
    BgeeiP56179.
    CleanExiHS_DLX6.
    GenevestigatoriP56179.

    Organism-specific databases

    HPAiHPA030608.

    Interactioni

    Protein-protein interaction databases

    BioGridi108094. 1 interaction.
    IntActiP56179. 1 interaction.
    STRINGi9606.ENSP00000007660.

    Structurei

    3D structure databases

    ProteinModelPortaliP56179.
    SMRiP56179. Positions 46-106.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the distal-less homeobox family.Curated
    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG289877.
    HOGENOMiHOG000231941.
    HOVERGENiHBG005493.
    InParanoidiP56179.
    KOiK09314.
    OMAiSPYLPSY.
    OrthoDBiEOG70W3F8.
    PhylomeDBiP56179.
    TreeFamiTF315720.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    IPR000047. HTH_motif.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    [Graphical view]
    PRINTSiPR00024. HOMEOBOX.
    PR00031. HTHREPRESSR.
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P56179-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MSHSQHSPYL QSYHNSSAAA QTRGDDTDQQ KTTVIENGEI RFNGKGKKIR    50
    KPRTIYSSLQ LQALNHRFQQ TQYLALPERA ELAASLGLTQ TQVKIWFQNK 100
    RSKFKKLLKQ GSNPHESDPL QGSAALSPRS PALPPVWDVS ASAKGVSMPP 150
    NSYMPGYSHW YSSPHQDTMQ RPQMM 175
    Length:175
    Mass (Da):19,708
    Last modified:January 11, 2001 - v2
    Checksum:iF5552738D7E0CB84
    GO
    Isoform 2 (identifier: P56179-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MMTMTTMADG...HRSLAAYPYM

    Show »
    Length:265
    Mass (Da):29,387
    Checksum:iEBCA7528A559B068
    GO
    Isoform 3 (identifier: P56179-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MMTMTTMADG...HRSLAAYPYM

    Show »
    Length:293
    Mass (Da):32,582
    Checksum:i89F34C88E4C4E44F
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MMTMTTMADGLEGQDSSKSA FMEFGQQQQQQHSPAMAGAH YPLHCLHSAAAAAAAGSHHH HHHQHHHHGSPYASGGGNSY NHRSLAAYPYM in isoform 2. CuratedVSP_040732
    Alternative sequencei1 – 11M → MMTMTTMADGLEGQDSSKSA FMEFGQQQQQQQQQQQQQQQ QQQQPPPPPPPPPQPHSQQS SPAMAGAHYPLHCLHSAAAA AAAGSHHHHHHQHHHHGSPY ASGGGNSYNHRSLAAYPYM in isoform 3. CuratedVSP_047248

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC004774 Genomic DNA. Translation: AAC17832.1.
    CH236949 Genomic DNA. Translation: EAL24122.1.
    CH471091 Genomic DNA. Translation: EAW76744.1.
    BC069363 mRNA. Translation: AAH69363.1.
    BC103688 mRNA. Translation: AAI03689.1.
    BC103689 mRNA. Translation: AAI03690.1.
    BC103690 mRNA. Translation: AAI03691.1.
    BC109381 mRNA. Translation: AAI09382.1.
    AK094086 mRNA. Translation: BAG52812.1.
    CCDSiCCDS47647.2. [P56179-3]
    PIRiD53495.
    RefSeqiNP_005213.3. NM_005222.3. [P56179-3]
    UniGeneiHs.249196.

    Genome annotation databases

    EnsembliENST00000518156; ENSP00000428480; ENSG00000006377. [P56179-3]
    GeneIDi1750.
    KEGGihsa:1750.
    UCSCiuc022ahu.1. human.

    Polymorphism databases

    DMDMi12644330.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC004774 Genomic DNA. Translation: AAC17832.1 .
    CH236949 Genomic DNA. Translation: EAL24122.1 .
    CH471091 Genomic DNA. Translation: EAW76744.1 .
    BC069363 mRNA. Translation: AAH69363.1 .
    BC103688 mRNA. Translation: AAI03689.1 .
    BC103689 mRNA. Translation: AAI03690.1 .
    BC103690 mRNA. Translation: AAI03691.1 .
    BC109381 mRNA. Translation: AAI09382.1 .
    AK094086 mRNA. Translation: BAG52812.1 .
    CCDSi CCDS47647.2. [P56179-3 ]
    PIRi D53495.
    RefSeqi NP_005213.3. NM_005222.3. [P56179-3 ]
    UniGenei Hs.249196.

    3D structure databases

    ProteinModelPortali P56179.
    SMRi P56179. Positions 46-106.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108094. 1 interaction.
    IntActi P56179. 1 interaction.
    STRINGi 9606.ENSP00000007660.

    PTM databases

    PhosphoSitei P56179.

    Polymorphism databases

    DMDMi 12644330.

    Proteomic databases

    PaxDbi P56179.
    PRIDEi P56179.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000518156 ; ENSP00000428480 ; ENSG00000006377 . [P56179-3 ]
    GeneIDi 1750.
    KEGGi hsa:1750.
    UCSCi uc022ahu.1. human.

    Organism-specific databases

    CTDi 1750.
    GeneCardsi GC07P096634.
    H-InvDB HIX0006871.
    HGNCi HGNC:2919. DLX6.
    HPAi HPA030608.
    MIMi 600030. gene.
    neXtProti NX_P56179.
    PharmGKBi PA27374.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG289877.
    HOGENOMi HOG000231941.
    HOVERGENi HBG005493.
    InParanoidi P56179.
    KOi K09314.
    OMAi SPYLPSY.
    OrthoDBi EOG70W3F8.
    PhylomeDBi P56179.
    TreeFami TF315720.

    Miscellaneous databases

    GeneWikii DLX6.
    GenomeRNAii 1750.
    NextBioi 35535511.
    PROi P56179.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P56179.
    Bgeei P56179.
    CleanExi HS_DLX6.
    Genevestigatori P56179.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    IPR000047. HTH_motif.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    PRINTSi PR00024. HOMEOBOX.
    PR00031. HTHREPRESSR.
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "Human chromosome 7: DNA sequence and biology."
      Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
      , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
      Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Neuroblastoma.
    6. Cited for: NUCLEOTIDE SEQUENCE OF 49-114.
      Tissue: Embryo.

    Entry informationi

    Entry nameiDLX6_HUMAN
    AccessioniPrimary (citable) accession number: P56179
    Secondary accession number(s): A4D1I2
    , B3KSQ0, J3KR92, Q3ZAR6, Q9UPL2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: January 11, 2001
    Last modified: October 1, 2014
    This is version 127 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3